Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

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66 entries on 1 page. Showing entries 1 - 66.
Legend  

AscendingSymbol     

Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
QARS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QARS
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 42 LOVD 3.X 2024-04-19
QARS BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QARS
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QARS BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QARS
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-12
QARS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QARS1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 928 ClinVar 2024-07-08
QDPR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QDPR[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 423 ClinVar 2024-05-08
QDPR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QDPR
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 18 LOVD 3.X 2024-04-19
QDPR BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QDPR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QDPR BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QDPR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-16
QDPR Quinoid Dihydropteridinereductase deficiency- BIOMED database
http://www.bh4.org/
Nenad Blaul, ZurichJ.L. Dhont, I. Dianzani
University Children's Hospital Heidelberg, Germany
Faculté libre de Médicine, Lille, France
Univ.Torino, Torino, Italy
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
QKI ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QKI[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 55 ClinVar 2024-05-08
QKI Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QKI
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 12 LOVD 3.X 2024-04-19
QKI BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QKI
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QKI BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QKI
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-09
QKILA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QKILA[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 9 ClinVar 2021-11-07
QNG1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QNG1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 35 ClinVar 2024-05-08
QPCT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPCT[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 50 ClinVar 2024-05-08
QPCT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPCT
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 5 LOVD 3.X 2024-02-26
QPCT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPCT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QPCT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPCT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-05
QPCTL ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPCTL[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 46 ClinVar 2024-05-08
QPCTL Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPCTL
Global Variome, with Curator vacancy
Database manager
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
QPCTL BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPCTL
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QPCTL BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPCTL
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-16
QPRT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPRT[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 292 ClinVar 2024-07-08
QPRT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPRT
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 5 LOVD 3.X 2024-04-19
QPRT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPRT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QPRT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPRT
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-04
QRFP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRFP[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 60 ClinVar 2024-07-08
QRFP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRFP
Global Variome, with Curator vacancy
Database manager
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
QRFP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRFP
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QRFP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRFP
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-21
QRFPR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRFPR[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 50 ClinVar 2024-07-08
QRFPR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRFPR
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 3 LOVD 3.X 2021-04-07
QRFPR BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRFPR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QRFPR BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRFPR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-07
QRICH1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRICH1
Zeynep Tümer
Copenhagen University Hospital, Rigshospitalet
Rating: 3Rating: 3Rating: 3Rating: 3 53 LOVD 3.X 2024-04-19
QRICH1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRICH1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 141 ClinVar 2024-07-08
QRICH1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRICH1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QRICH1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRICH1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-12
QRICH2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRICH2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 185 ClinVar 2024-05-08
QRICH2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRICH2
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 8 LOVD 3.X 2023-11-27
QRICH2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRICH2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QRICH2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRICH2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-12
QRSL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRSL1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 157 ClinVar 2024-07-08
QRSL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRSL1
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 20 LOVD 3.X 2024-04-19
QRSL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRSL1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QRSL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRSL1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-08
QSER1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QSER1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 101 ClinVar 2024-05-08
QSER1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QSER1
Global Variome, with Curator vacancy
Database manager
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
QSER1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QSER1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-18
QSER1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSER1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QSOX1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QSOX1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 94 ClinVar 2024-07-08
QSOX1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QSOX1
Global Variome, with Curator vacancy
Database manager
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
QSOX1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSOX1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QSOX1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QSOX1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-09-30
QSOX2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QSOX2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 115 ClinVar 2024-07-08
QSOX2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QSOX2
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 8 LOVD 3.X 2024-04-19
QSOX2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSOX2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QSOX2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QSOX2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-11
QTRT1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QTRT1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 62 ClinVar 2024-07-08
QTRT1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QTRT1
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 4 LOVD 3.X 2024-02-26
QTRT1 MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/QTRT1
Lishuang Shen
Children's Hospital Los Angeles
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
QTRT1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QTRT1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
QTRT1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QTRT1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-13
QTRT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QTRT2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 37 ClinVar 2024-05-08
QTRTD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QTRTD1
Global Variome, with Curator vacancy
Database manager
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
Legend